Canonical Allele Identifier: CA406314285
Community Standard Title: NM_005581.5(BCAM):c.361C>G (p.Arg121Gly)
Gene: BCAM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44812319C>G , CM000681.2:g.44812319C>G GRCh38
NC_000019.9:g.45315576C>G , CM000681.1:g.45315576C>G GRCh37
NC_000019.8:g.50007416C>G NCBI36
NG_007480.1:g.8239C>G

Transcript Alleles

HGVS Amino-acid Change
NM_005581.5:c.361C>G MANE Select NP_005572.2:p.Arg121Gly
ENST00000270233.12:c.361C>G MANE Select ENSP00000270233.5:p.Arg121Gly
NM_001013257.2:c.361C>G NP_001013275.1:p.Arg121Gly
NM_005581.4:c.361C>G NP_005572.2:p.Arg121Gly
ENST00000270233.10:c.361C>G ENSP00000270233.5:p.Arg121Gly
ENST00000588603.1:n.356C>G
ENST00000589651.5:c.361C>G ENSP00000476710.1:p.Arg121Gly
ENST00000591520.5:c.298C>G ENSP00000467100.1:p.Arg100Gly
ENST00000591520.6:c.298C>G ENSP00000467100.2:p.Arg100Gly
ENST00000611077.4:c.361C>G ENSP00000481153.1:p.Arg121Gly
ENST00000611077.5:c.361C>G ENSP00000481153.1:p.Arg121Gly